Skip to main content

Advertisement

Table 1 Diagnostic criteria for NF1 (two or more must be present)

From: Malignant peripheral nerve sheath tumours in inherited disease

Disease Birth incidence Main tumour associations Known risk of MPNST
NF1 1 in 2,712 Neurofibroma, MPNST, glioma AML, phaeochromocytoma yes
Schwannomatosis 1 in 100,000 Schwannoma, meningioma No
NF2 1 in 33,000 Schwannoma, meningioma, ependymoma Only after irradiation
BRCA1 1 in 900 Breast cancer, Ovarian cancer No
BRCA2 1 in 850 Breast cancer, Ovarian cancer, prostate cancer No
TP53 1 in 3000 Breast cancer, sarcoma, glioma, lung cancer, adreno-cortical possible
FAP 1 in 8,619 Colorectal, duodenal, hepatoblastoma, thyroid No
MSH2 1 in 2000 Colorectal, endometrium, ovarian, upper urothelial, gastric, glioma No
MLH1 1 in 2000 Colorectal, endometrium, ovarian, upper urothelial, gastric, glioma No
MSH6 1 in 10,000 Colorectal, endometrium, ovarian, upper urothelial, gastric, glioma No
vHL 1 in 42,987 Renal cancer, haemangioblastoma No
Gorlin syndrome 1 in 18,976 Basal cell carcinoma, medulloblastoma No